A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv131e55



Internal ID22761081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46135838..46286690hg38UCSC Ensembl
chr17:44213204..44364056hg19UCSC Ensembl
chr17:41568981..41719833hg18UCSC Ensembl
chr17:41568981..41719833hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38150853
hg19150853
hg18150853
hg17150853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751765, esv2751762
SamplesBEC_176, NA07029
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv131e55
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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